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Methylation is a phase II biotransformation process involving the attachment of a methyl group to a substrate. Enzymes known as methyltransferases orchestrate this reaction.
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Related Experiment Video

Updated: May 1, 2026

Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes
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Methylmalonic acidaemia in pregnancy.

Yves Jacquemyn1, Marieke Den Hartog, Francois Eyskens

  • 1Department of Obstetrics, UZA, Edegem, Belgium.

BMJ Case Reports
|April 2, 2014
PubMed
Summary

Pregnancy in women with methylmalonic acidaemia (MMA) can be uncomplicated with standard treatment. This case demonstrates a healthy mother and baby, highlighting successful management of this rare metabolic disorder during gestation.

Area of Science:

  • Biochemistry
  • Genetics
  • Maternal-Fetal Medicine

Background:

  • Methylmalonic acidaemia (MMA) is a rare autosomal recessive metabolic disorder.
  • It results from deficient methylmalonyl-CoA mutase or its vitamin B12-dependent cofactor.
  • Accumulation of methylmalonic acid leads to severe clinical manifestations.

Observation:

  • A 27-year-old woman with vitamin B12-responsive MMA underwent an uncomplicated pregnancy.
  • Her treatment regimen included a low-protein diet and supplements.
  • She delivered a healthy infant without MMA.

Findings:

  • The pregnancy and postpartum period were uneventful.
  • This represents the 11th reported case of pregnancy in a woman with MMA.
  • Successful management of MMA during pregnancy is achievable.

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Implications:

  • This case supports the safety and efficacy of continuing standard MMA treatment during pregnancy.
  • It offers valuable insights for managing similar metabolic disorders in pregnant individuals.
  • Further research can optimize protocols for pregnant patients with inherited metabolic diseases.